R448C (p.Arg448Cys) variant of CYP11B1 (P15538)
R448C (p.Arg448Cys) in CYP11B1 (P15538) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Deficiency of steroid 11-beta-monooxygenase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R448C (p.Arg448Cys) variant details
- p.Arg448Cys
- rs1221010438
- ClinGen CA372391457
- ClinVar RCV001959022
- ClinVar RCV003471195
- Pathogenic/Likely pathogenic
- not provided; Deficiency of steroid 11-beta-monooxygenase
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.89
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Deficiency of steroid 11-beta-monooxygenase)
- EBI: Pathogenic (in AH4)
- UniProt: Pathogenic (in AH4)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and… (PMID 20089618)
- Cited in: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID 16046588)